Saturday 18 June 2005
Definition: The gene SUFU encodes a component of the sonic hedgehog/patched signaling pathway (SHH/PTCH signaling pathway).
Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes:
- HPE3 (MIM.142945)
- BCNS (MIM.109400)
- GCPS (MIM.175700).